269 related articles for article (PubMed ID: 31204697)
1. Williams-Beuren syndrome in Mexican patients confirmed by FISH and assessed by aCGH.
Ramírez-Velazco A; Aguayo-Orozco TA; Figuera L; Rivera H; Jave-Suárez L; Aguilar-Lemarroy A; Torres-Reyes LA; Córdova-Fletes C; Barros-Núñez P; Delgadillo-Pérez S; Dávalos-Rodríguez IP; García-Ortiz JE; Domínguez MG
J Genet; 2019 Jun; 98(2):. PubMed ID: 31204697
[TBL] [Abstract][Full Text] [Related]
2. Rare genomic rearrangement in a boy with Williams-Beuren syndrome associated to XYY syndrome and intriguing behavior.
Dutra RL; Piazzon FB; Zanardo ÉA; Costa TV; Montenegro MM; Novo-Filho GM; Dias AT; Nascimento AM; Kim CA; Kulikowski LD
Am J Med Genet A; 2015 Dec; 167A(12):3197-203. PubMed ID: 26420477
[TBL] [Abstract][Full Text] [Related]
3. [Genetic analysis of a child with atypical Williams-Beuren syndrome presenting as supravalvular aortic stenosis].
Wu D; Zhang M; Gao Y; Huo X; Xiao H; Zhang Q; Kang B; Wang X; Liao S
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Apr; 37(4):475-478. PubMed ID: 32219841
[TBL] [Abstract][Full Text] [Related]
4. Chromosomal Microarray Analysis in Taiwanese Patients with Williams-Beuren Syndrome.
Kuo HT; Chen CH; Lin CY; Chang YS; Chang JG
Cytogenet Genome Res; 2019; 159(4):182-189. PubMed ID: 31931504
[TBL] [Abstract][Full Text] [Related]
5. Genotype-phenotype correlation and the size of microdeletion or microduplication of 7q11.23 region in patients with Williams-Beuren syndrome.
Ghaffari M; Tahmasebi Birgani M; Kariminejad R; Saberi A
Ann Hum Genet; 2018 Nov; 82(6):469-476. PubMed ID: 30155880
[TBL] [Abstract][Full Text] [Related]
6. [Clinical aspects and genetics of Williams-Beuren syndrome. Clinical and molecular genetic study of 44 patients with suspected Williams-Beuren syndrome].
von Beust G; Laccone FA; del Pilar Andrino M; Wessel A
Klin Padiatr; 2000; 212(6):299-307. PubMed ID: 11190824
[TBL] [Abstract][Full Text] [Related]
7. Assessment of clinical scoring systems for the diagnosis of Williams-Beuren syndrome.
Leme DE; Souza DH; Mercado G; Pastene E; Dias A; Moretti-Ferreira D
Genet Mol Res; 2013 Sep; 12(3):3407-11. PubMed ID: 24065682
[TBL] [Abstract][Full Text] [Related]
8. Williams-Beuren syndrome: determination of deletion size using quantitative real-time PCR.
Schubert C; Laccone F
Int J Mol Med; 2006 Nov; 18(5):799-806. PubMed ID: 17016608
[TBL] [Abstract][Full Text] [Related]
9. Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region.
Nicita F; Garone G; Spalice A; Savasta S; Striano P; Pantaleoni C; Spartà MV; Kluger G; Capovilla G; Pruna D; Freri E; D'Arrigo S; Verrotti A
Am J Med Genet A; 2016 Jan; 170A(1):148-55. PubMed ID: 26437767
[TBL] [Abstract][Full Text] [Related]
10. An unusual combination of an atypical maternally inherited novel 0.3 Mb deletion in Williams-Beuren region and a de novo 22q11.21 microduplication in an infant with supravalvular aortic stenosis.
Evangelidou P; Kousoulidou L; Salameh N; Alexandrou A; Papaevripidou I; Alexandrou IM; Ketoni A; Ioannidou C; Christophidou-Anastasiadou V; Tanteles GA; Sismani C
Eur J Med Genet; 2020 Dec; 63(12):104084. PubMed ID: 33045407
[TBL] [Abstract][Full Text] [Related]
11. An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient.
Ferrero GB; Howald C; Micale L; Biamino E; Augello B; Fusco C; Turturo MG; Forzano S; Reymond A; Merla G
Eur J Hum Genet; 2010 Jan; 18(1):33-8. PubMed ID: 19568270
[TBL] [Abstract][Full Text] [Related]
12. [Clinical characterization, molecular and FISH studies in 80 patients with clinical suspicion of Williams-Beuren syndrome].
Milà M; Carrió A; Sánchez A; Gómez D; Jiménez D; Estivill X; Ballesta F
Med Clin (Barc); 1999 Jun; 113(2):46-9. PubMed ID: 10425618
[TBL] [Abstract][Full Text] [Related]
13. FISH analysis in both classical and atypical cases of Williams-Beuren syndrome.
Hou JW; Wang JK; Wang TR
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi; 1998; 39(6):398-403. PubMed ID: 9926515
[TBL] [Abstract][Full Text] [Related]
14. Williams-Beuren syndrome: phenotypic variability and deletions of chromosomes 7, 11, and 22 in a series of 52 patients.
Joyce CA; Zorich B; Pike SJ; Barber JC; Dennis NR
J Med Genet; 1996 Dec; 33(12):986-92. PubMed ID: 9004128
[TBL] [Abstract][Full Text] [Related]
15. Familial Williams-Beuren syndrome.
Ounap K; Laidre P; Bartsch O; Rein R; Lipping-Sitska M
Am J Med Genet; 1998 Dec; 80(5):491-3. PubMed ID: 9880214
[TBL] [Abstract][Full Text] [Related]
16. Williams-Beuren syndrome diagnosis using fluorescence in situ hybridization.
Osborne LR; Joseph-George AM; Scherer SW
Methods Mol Med; 2006; 126():113-28. PubMed ID: 16930009
[TBL] [Abstract][Full Text] [Related]
17. Williams-Beuren Syndrome and Burkitt Leukemia.
Zhukova N; Naqvi A
J Pediatr Hematol Oncol; 2013 Jan; 35(1):e30-2. PubMed ID: 23018576
[TBL] [Abstract][Full Text] [Related]
18. Investigation of deletions at 7q11.23 in 44 patients referred for Williams-Beuren syndrome, using FISH and four DNA polymorphisms.
Brøndum-Nielsen K; Beck B; Gyftodimou J; Hørlyk H; Liljenberg U; Petersen MB; Pedersen W; Petersen MB; Sand A; Skovby F; Stafanger G; Zetterqvist P; Tommerup N
Hum Genet; 1997 Jan; 99(1):56-61. PubMed ID: 9003495
[TBL] [Abstract][Full Text] [Related]
19. Molecular and phenotypic characterization of atypical Williams-Beuren syndrome.
Euteneuer J; Carvalho CM; Kulkarni S; Vineyard M; Grady RM; Lupski JR; Shinawi M
Clin Genet; 2014 Nov; 86(5):487-91. PubMed ID: 24246242
[TBL] [Abstract][Full Text] [Related]
20. Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers.
Dutra RL; Pieri Pde C; Teixeira AC; Honjo RS; Bertola DR; Kim CA
Clinics (Sao Paulo); 2011; 66(6):959-64. PubMed ID: 21808859
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
